Article
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar.
Journal of clinical immunology - 1 Jul 2022
Donko Agnes, Kuhns Douglas B, Cousin Margot A, Smith Matthew J, Sacco Keith A, Klee Eric W, Joshi Avni Y, Gavrilova Ralitza H, Holland Steven M, Leto Thomas L, Abraham Roshini S
Abstract excerpt
PURPOSE: This is a functional characterization of a novel CYBA variant associated with normal DHR flow cytometry. Chronic granulomatous disease (CGD) is an inborn error of immunity characterized by recurrent bacterial and fungal infections and dysregulated inflammatory responses due to defective phagocytic cell function leading to the formation of granulomas. CGD patients have pathogenic variants in any of the...
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